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rs72554626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs72554626(A;G)
Make rs72554626(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142912000
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs72554626
dbSNP (classic)rs72554626
ClinGenrs72554626
ebirs72554626
HLIrs72554626
Exacrs72554626
Gnomadrs72554626
Varsomers72554626
LitVarrs72554626
Maprs72554626
PheGenIrs72554626
Biobankrs72554626
1000 genomesrs72554626
hgdprs72554626
ensemblrs72554626
geneviewrs72554626
scholarrs72554626
googlers72554626
pharmgkbrs72554626
gwascentralrs72554626
openSNPrs72554626
23andMers72554626
SNPshotrs72554626
SNPdbers72554626
MSV3drs72554626
GWAS Ctlgrs72554626
Max Magnitude0
OMIM124080
Desc
Variant0012
Relatedalso


ClinVar
Risk rs72554626(G;G)
Alt rs72554626(G;G)
Reference Rs72554626(A;A)
Significance Pathogenic
Disease Corticosterone methyloxidase type 2 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 2 deficiency
Reversed 1
HGVS NC_000008.10:g.143993416T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018381.27,